Diseases - MBM Exam 1 Flashcards
Tay-Sachs
Lysosomal Storage disease, lack of lysosomal a-hexosaminidase, GM2 ganglioside builds up
Neumann Pick Type A, B
Lack of sphingomyelinase, accumulates in CNS Lack of sphingomyelinase, accumulates in CNS
Gaucher Disease
Lysosomal Storage disease, lack of the lysosomal enzyme glucocerebrosidase Symptoms: hepatosplenomegaly, bone disease
Cushing’s Syndrome
Fatty acid disease, Cortisol chronically causes accelerated lipolysis
Malate Dehydrogenase Deficiency
Fatty acid disease, lack of malate dehydrogenase causes early onset encephalopathy
Congenital General Lipodystrophy Type I
CGL1, Fatty acid disease, lack of AGPAT2 results in lack of bodyfat
Fabry’s Disease
Fatty acid/Lysosomal storage, lack of a-galactosidase results in accumulation of sphingolipids Symptoms: rashy skin
Zellweger Syndrome
Peroxisomal disease, Very long chain fatty acids cannot be imported to peroxisomes, Symptoms: hepatic, cerebral, and renal degeneration
Respiratory Distress Syndrome
RDS, Fatty acid disease, Lung surfactant in neonates is not produced (dipalmitoyl phosphatidylcholine)
Neutral Lipid Storage Disorder with Myopathy
NLSDM, Fatty acid disease, Mutations in ATGL
Emery-Dreifuss syndrome (muscular dystrophy)
Laminopathy, lack of necessary lamina protein
Hutchinson-Gilford syndrome (progeria)
Laminopathy, splicing error in nuclear lamina
Lynch Syndrome
HNPSS, Error in mismatch repair, defect in mismatch repair enzymes, symptoms: colon cancer
Xeroderma pigmentosum
Error in nucleotide excision repair, ability to repair damage caused by UV light is messed up, Symptoms: basal cell carcinomas
Werner Syndrome
DNA replication problem, helicase is malfunctioning, premature aging
Shh ectopic expression
Gene Regulation disease, mutation in ZRS enhancer –> ectopic expression of Shh, Symptoms: human limb malformations
Follicular B-Cell Lymphoma
Gene Regulation disease, 14:18 translocation due to overexpression of BCL-2
Cleft Lip
Gene Regulation disease, Disruption of Ap-2a binding site of IRF6 enhancer, symptoms: cleft lip
Fragile X Syndrome
FXS Gene Regulation disease, mutation in the FMR1 gene encoding fragile X mental retardation protein, underdevelopment of neural circuits
Brown Adipose Tissue
BAT, Mitochondrial disease, inability to expel brown fat after infancy, symtpoms: hibernoma growth
Leigh Syndrome
LS, Mitochondrial disease, encephalopathy, cerebellar and brain stem signs
MELAS
Mitochondrial disease, Stroke like episodes at < 40 y/o, seizures, and ragged-red fibers
MEMSA
Mitochondrial disease: myopathy, seizures, cerebellar ataxia
MERRF
Mitochondrial disease: myoclonul, seizures, cerebellar ataxia
Cataracts
Cholesterol Synthesis disease, LCAT dysfunction, failure to uptake HDL, leads to eye cloudiness
Gallstone disease or cholelithiasis
Cholesterol disease, cholesterol precipitation in galbladder, gallstones
Rickets
Steroid synthesis disease, vitamin D deficiency from low steroid hormone synthesis from cholesterol, Symptoms: low [Ca], skeletal deformities, softening of the bones
Familial Defective ApoB
Apolipoprotein disorder binding failure of ApoB100 to LDL receptor
Atherosclerosis
Lipoprotein metabolism disorder, uptake of OxLDL by macrophage scavenger receptors, foam cell and plaque formation Symptoms: heart failure
Familial Hypercholesterolemia / Type IIa
FH, Dyslipidemia, Uptake of LDL is impaired, greater [LDL-cholesterol]
Familial Combined Hyperlipidemia / Type IIb
Dyslipidemia, overproduction of ApoB100, higher generation of LDL
Familial dysbetalipoproteinemia / Type III
Dyslipidemia, Apo E2 synthesis defect; low affinity for LDL receptor, Symptoms: coronary disease
Lipoprotein Lipase Deficiency
Dyslipidemia, Extremely high levels of VLDL and chylomicrons, symptoms: increased pancreatitis risk
Maturity Onset Diabetes of the Young
MODY, Insulin disorder, glucokinase mutation
PFK-1 deficiency
Carb Enzyme deficiency, deficiency in PFK-1 leads to inefficient use of glucose in RBCs and muscles. Symptoms: anemia, muscle cramping
Pyruvate Kinase deficiency
Carb Enzyme deficiency, deficiency in pyruvate kinase leads to insufficient ATP for membrane pumps. Symptoms: hemolytic anemia
Lactic Acidosis
Carb Enzyme deficiency, too much blood lactate, exceeds buffering capacity of the blood. Symptoms: nausea, vomiting, hyperventilation
Von Gierke disease
Glycogen storage disease, glucose 6 phosphatase deficiency. Symptoms: hepatomegaly
McArdle disease
Glycogen storage disease. muscle glycogen phosphorylase deficiency. Symptoms: muscle cramps and pain
Pompe disease
Glycogen storage disease. lysosomal glucosidase deficiency. Symptoms: no hepatomegaly, severe cardiomyopathy
Neonatal hypoglycemia
Glycogen storage disease. Malnourished mother leads to hypoglycemic child. Symptoms: newborn born hypoglycemic
Hunter disease
GAG disease. deficiency of iduronate sulfatase. Symptoms: no hepatosplenomegaly
Hurler disease
GAG disease. deficiency of a-L-iduronidase. Symptoms: hepatosplenomegaly
I-cell disease
GAG disease. mannose tag is missing on lysosomal hydrolases
Essential Fructoseria
Fructose Metabolism disease. deficiency of fructokinase. no symptoms
Hereditary Fructose Intolerance
HFI. Fructose Metabolism disease. deficiency in aldolase. Symptoms: hepatomegaoly, hypoglycemia
Classical Galactosemia
Galactose metabolism disease. deficiency of galactose 1-phosphate uridylyl transferase. Symptoms: blood galactose increase
Non-classical Galactosemia
Galactose metabolism disease. deficiency in galactokinase. Symptoms: blood galactose increase
G6PD deficiency
PPP disease. deficiency in G6P, similar inheritence pattern as sickle cell (heterozygous = malaria resistence), heinz bodies
Spinal Muscular Atrophy
mRNA splicing disorder. snRNP malfunctioning. Symptoms: hypotonia and floppy baby syndrome
Medium Chain Acyl-CoA Dehydrogenase Deficiency
MCADD. Mutations in the ACADM gene lead to a shortage (deficiency) of the MCAD enzyme within cells. Without sufficient amounts of this enzyme, medium-chain fatty acids are not metabolized properly. As a result, these fats are not converted to energy, which can lead to the characteristic signs and symptoms of this disorder such as lethargy and hypoglycemia. Medium-chain fatty acids or partially metabolized fatty acids may also build up in tissues and damage the liver and brain. This abnormal buildup causes the other signs and symptoms of MCAD deficiency.
Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia is a genetic disorder. In children with CAH, the gene (21-hydroxylase) that makes the enzyme needed to produce cortisol and aldosterone is not working properly.
Neurofibromatosis Type I
NF1. Mutations in the NF1 gene cause neurofibromatosis type 1. The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves (oligodendrocytes and Schwann cells). Neurofibromin acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the NF1 gene lead to the production of a nonfunctional version of neurofibromin that cannot regulate cell growth and division. As a result, tumors such as neurofibromas can form along nerves throughout the body.
Familial Isolated Hypothyroidism
Familial isolated hyperparathyroidism can be caused by mutations in the MEN1, CDC73, or CASR gene.
Severe Combined Immunodeficiency Syndrome
SCIDS. Purine Metabolism disorder. Adenosine Deaminase Deficiency - purine catabolism enzyme. Symptoms: severe immune deficiency. B, T, and plasma cells affected.
Gout
Purine Metabolism disorder. excess uric acid form crystals –> inflammatory response in macrophages. Symptoms: inflammation, joint destruction, kidney disease, kidney stones
Von Gierke disease
Purine Metabolism disorder. defect of glucose 6 phosphatase -> glucose can’t be formed from G6P so G6P instead goes down PPP to make uric acid
Lesch-Nyhan Syndrome
Purine rescue disorder. HGPRT deficiency. Symptoms: destructive behavior toward self, hyperuricemia
orotic aciduria
pyrimidine synthesis disorder. deficiency in OMP decarboxylase or OPT. Symptoms: slow growth in children, anemia
phenylketonuria
PKU. amino acid metabolism disorder. elevated phenylalanine in tissue and reduced tyrosine. Symptoms: mousey odor, CNS abnormalities, hypopigmentation
alkaptonuria
amino acid metabolism disorder. accumulation of homogentisic acid oxidase, which participates in degradation of tyrosine. Symptoms: black urine and black bone
albinism
amino acid metabolism disorder . defect in tyrosine metabolism. Symptoms: albino phenotype
homocystinuria
amino acid metabolism disorder. defect in homocysteine metabolism. Symptoms: myopia, displacement of the lens, skeletal abnormalities
maple syrup urine disease
amino acid metabolism disorder. defect in BCKD which decarboxylates leucine, isoleucine, and valine. Symptoms: feeding problems, maple syrup odor in urine
blue diaper syndrome
amino acid metabolism disorder defect in recovery of tryptophan in intestine. Symptoms: blue urine, hypercalcemia
cystinuria
amino acid metabolism disorder. defect in uptake of cystine, ornithine, arginine, and lysine (COAL) in urine in kidneys. Symptoms: kidney stones
retinoblastoma
mitosis disorder. mutation of retinoblastoma gene. Symptoms: cancer of the retina
ataxia-telangiectasia
mitosis disorder. damage in DNA damage sensors. Symptoms: malformed blood vessels and nervous system dysfunction
Down Syndrome
aneuploidy. trisomy 21. Symptoms: hypotonia, flat face, slanted palpebral fissures, single palmar crease
Edwards Syndrome
aneuploidy. trisomy 18. Symptoms: flexed fingers, Rocker Bottom feet, early death
Patau Syndrome
aneuploidy. trisomy 13. Symptoms: CNS malformation, cleft lip, early death
Klinefelter Syndrome
aneuploidy. 47,XXY in males. Symptoms: sterility, soft and small testes, breast development
Turner Syndrome
aneuploidy. monosomy X. Symptoms: short stature, broad chest, low hairline, ovarian dysgenesis, webbed neck
Wolf-Hirschhorn Syndrome
chromosomal deletion. 4p deletion. Symptoms: growth deficiency, convulsions in infancy, sacral dimples
Cri-du-chat Syndrome
chromosomal deletion. 5p deletion. Symptoms: catlike cry
Angelman Syndrome
Imprinting disorder. deletion in UBE3A gene, paternally imprinted gene (paternal copy is methylated). Symptoms: Happy puppet syndrome, fascination w/ water
Prader-Willi Syndrome
Imprinting disorder. mutation in SNRNPN– genes are maternally imprinted. Symptoms: hyperphagia (insatiable appetite)
Beckwith-Wiedemann Syndrome
Imprinting disorder. mutation in imprinting control region on 11p15. Symptoms: large at birth, abdominal wall defects
Russel-Silver Syndrome
Imprinting disorder. methylation error at 11p15 and UDP of chromosome 7. Symptoms: dwarfism, slow growth, opposite of BWS
Rett Syndrome
(kinda) Imprinting disorder. mutation in MeCP2 which is a DNA methyl binding protein. Symptoms: neurodevelopmental delays, microcephaly
